John J. Gargus
Medical Genetics | Pediatrics
Uci Medical Center
101 The City Drive South
Orange, CA 92868
101 The City Drive South
Orange, CA 92868
Last Updated: 09/26/2026
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Found 14 publications
From spatial patterning to coordinated execution: a cross-system framework for autism spectrum disorder.
Journal: Frontiers in psychiatry
Published: May 16, 2026
Genetic Dissection of Energy Deficiency in Autism Spectrum Disorder.
Journal: Genes
Published: July 09, 2025
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.
Journal: Nature genetics
Published: December 07, 2021
Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease.
Journal: Molecular genetics and metabolism reports
Published: October 03, 2020
Intracellular calcium dysregulation in autism spectrum disorder: An analysis of converging organelle signaling pathways.
Journal: Biochimica et biophysica acta. Molecular cell research
Published: May 09, 2018
Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.
Journal: Orphanet journal of rare diseases
Published: November 30, 2016
High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder.
Journal: Scientific reports
Published: October 12, 2016
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 06, 2015
Shared functional defect in IP₃R-mediated calcium signaling in diverse monogenic autism syndromes.
Journal: Translational psychiatry
Published: December 09, 2014
The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.
Journal: Circulation. Cardiovascular genetics
Published: November 09, 2013
Channelopathy pathogenesis in autism spectrum disorders.
Journal: Frontiers in genetics
Published: July 06, 2013
Last Updated: 09/26/2026